LOC129937550[gene] - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154258	GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3	PDIA5, PHLDB2 +1344 more	Copy number gain	See cases	GPathogenic
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC115995524, LOC115995525 +2647 more	Copy number gain	See cases	GPathogenic
Select item 153723	GRCh38/hg38 3q21.3-23(chr3:126106779-140918089)x3	LOC129937605, LOC129937606 +484 more	Copy number gain	See cases	GUncertain significance
Select item 154720	GRCh38/hg38 3q21.3-22.1(chr3:127607945-133566661)x1	LOC129937518, LOC129937519 +248 more	Copy number loss	See cases	GLikely pathogenic
Select item 2708891	NM_001276270.2(MBD4):c.51C>G (p.Ala17=)	LOC129937550, MBD4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2759814	NM_001276270.2(MBD4):c.44G>A (p.Gly15Glu)	LOC129937550, MBD4 (G15E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3543745	NM_001276270.2(MBD4):c.40C>G (p.Arg14Gly)	LOC129937550, MBD4 (R14G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3365789	NC_000003.12:g.129439794G>A	IFT122, LOC129937550 +1 more (R14C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2879676	NM_001276270.2(MBD4):c.37G>A (p.Asp13Asn)	LOC129937550, MBD4 (D13N)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2703654	NM_001276270.2(MBD4):c.33G>A (p.Leu11=)	LOC129937550, MBD4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1337923	NM_001276270.2(MBD4):c.31C>T (p.Leu11=)	MBD4, LOC129937550	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 2871419	NM_001276270.2(MBD4):c.25_26del (p.Leu9fs)	LOC129937550, MBD4 (L9fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 3124045	NM_001276270.2(MBD4):c.23G>T (p.Ser8Ile)	LOC129937550, MBD4 (S8I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2913777	NM_001276270.2(MBD4):c.22A>G (p.Ser8Gly)	LOC129937550, MBD4 (S8G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2783136	NM_001276270.2(MBD4):c.11C>G (p.Thr4Ser)	LOC129937550, MBD4 (T4S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3014927	NM_001276270.2(MBD4):c.10A>G (p.Thr4Ala)	LOC129937550, MBD4 (T4A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2784451	NM_001276270.2(MBD4):c.9G>T (p.Thr3=)	LOC129937550, MBD4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2696433	NM_001276270.2(MBD4):c.7A>G (p.Thr3Ala)	LOC129937550, MBD4 (T3A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3543760	NM_001276270.2(MBD4):c.-1G>A	LOC129937550, MBD4	Single nucleotide variant (5 prime UTR variant)	Inborn genetic diseases	GUncertain significance
Select item 1337963	NM_001276270.2(MBD4):c.-5G>C	LOC129937550, MBD4	Single nucleotide variant (5 prime UTR variant)	not specified +1 more	GConflicting classifications of pathogenicity

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Items: 20